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FLASH GENE
Symbol GLE1 contributors: mct/shn - updated : 07-11-2019
HGNC name GLE1 RNA export mediator homolog (yeast)
HGNC id 4315
Corresponding disease
LCCS1 lethal congenital contracture syndrome 1
Location 9q34.11      Physical location : 131.266.970 - 131.304.579
Synonym name
  • GLE1 RNA export mediator-like (yeast)
  • GLE1 (yeast homolog)-like, RNA export mediator
  • GLE1 RNA export mediator (yeast)
  • GLE1-like protein
  • GLE1-like, RNA export mediator
  • nucleoporin GLE1
  • lethal congenital contracture syndrome 1
    • Synonym symbol(s) hGLE1, GLE1L, LCCS, LCCS1, GLE1B
    DNA
    TYPE functioning gene
    STRUCTURE 37.61 kb     16 Exon(s)
    regulatory sequence Promoter
    text structure
  • wild-type GLE1 protomers form discrete multimers and higher-order disk structures in vitro, with evidence for dimer formation happening in living cells
    • MAPPING cloned Y linked N status provisional
    Map cen - D9S918 - D9S1827 - GLE1 - D9S290 - D9S260 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 3350 - 698 has distinct steady-state localization at the nuclear pore complex 2013 24243016
  • GLE1B
    • 14 splicing 2266 - 659 is predominantly cytoplasmic 2013 24243016
  • GLE1A
  • lacks the C-terminal hCG1-binding domain
    		•
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus   highly
    Reproductivemale systemtestis  highly
    Respiratoryrespiratory tracttrachea  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal 29 AAs responsible for the interaction with NUP155 and for the targeting of GLE1 to the NPC (nuclear pore complex), with a coiled-coil domain )
  • a leucine-rich nuclear export sequence essential for poly(A)+RNA export
    • HOMOLOGY
    interspecies ortholog to Gle1, Mus musculus
    homolog to S.cerevisiae Gle1p
    ortholog to gle1, Danio rerio
    ortholog to Gle1, Rattus norvegicus
    ortholog to GLE1, Pantroglodytes
    Homologene
    FAMILY
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nuclear envelope,pore
    text
  • localized to nuclear pore complexes
  • its shuttling between the nucleoplasm and cytoplasm is essential for efficient mRNA export in human cells
    • basic FUNCTION
  • may act at a terminal step in the export of mature RNA messages to the cytoplasm
  • functions in poly(A)+ RNA export
  • critical role of normal mRNA processing in the development and survival of anterior motoneurons
  • playing a role with DDX19B in translation termination (Dossani 2009)
  • role in translation initiation through regulation of the initiation factor Ded1
  • multifunctional protein that regulates gene expression at multiple steps: nuclear mRNA export, translation initiation, and translation termination
  • specific requirement for proper GLE1 oligomerization during mRNA export, but not for GLE1 roles in translation
  • disruption of specific GLE1 mechanistic steps in export and/or translation results in different pathological outcomes
  • is a conserved modulator of RNA-dependent DEAD-box proteins required for mRNA export, translation, and stress responses
    • CELLULAR PROCESS cell migration & motility
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component with NUP155 and NUPL2 formed a heterotrimeric complex (these two nucleoporins were required for the nuclear pore complex localization of GLE1)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • nuclear pore complex protein Nup155
  • nucleoporin hCG1
  • eIF3
  • inositol hexakisphosphate (IP(6))
  • Ded1
  • MAPKs and GSK3 phosphorylate GLE1 and thereby coordinate stress granules (SGs) dynamics by altering DDX3X function
  • nuclear role for GLE1 in coordinating DDX1 function in transcription termination complexes
    • cell & other
    REGULATION
    Other is regulated by phosphorylation during heat shock stress
    ASSOCIATED DISORDERS
    corresponding disease(s) LCCS1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS